Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1800876
rs1800876
2 1.000 14 24510007 upstream gene variant G/A snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs7201637
rs7201637
2 1.000 16 82081670 intron variant T/A snv 9.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs775040765
rs775040765
2 1.000 7 140800366 missense variant T/C snv 8.0E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs61731956
rs61731956
3 0.925 0.080 11 47268596 missense variant G/A snv 2.2E-04 2.6E-04 0.020 1.000 2 2016 2016
dbSNP: rs1405999227
rs1405999227
3 0.925 0.160 7 55156637 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2640
rs2640
3 0.925 0.080 7 6026819 missense variant T/C snv 9.0E-02 5.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs391745
rs391745
3 0.925 0.080 X 97839482 intergenic variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs471979
rs471979
3 0.925 0.080 19 56027610 missense variant G/C snv 0.13 9.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs58124832
rs58124832
3 0.925 0.080 16 1218376 missense variant G/A;T snv 5.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs6162
rs6162
3 0.925 0.080 10 102837224 synonymous variant G/A snv 0.42 0.40 0.010 1.000 1 2013 2013
dbSNP: rs877610
rs877610
3 1.000 17 3572196 synonymous variant C/T snv 4.6E-02 7.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs1062577
rs1062577
4 0.882 0.080 6 152102770 3 prime UTR variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs483352809
rs483352809
5 0.882 0.120 19 6495754 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs774994509
rs774994509
5 0.851 0.080 21 31667296 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121912456
rs121912456
6 0.851 0.120 21 31659806 missense variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs121912433
rs121912433
7 0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121912436
rs121912436
7 0.827 0.080 21 31667274 missense variant G/A;C snv 0.010 1.000 1 1997 1997
dbSNP: rs1057519698
rs1057519698
ALK
8 0.827 0.120 2 29222347 missense variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1057519864
rs1057519864
AR
8 0.851 0.080 X 67723707 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs121908585
rs121908585
9 0.827 0.080 4 54285926 missense variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519783
rs1057519783
ALK
10 0.851 0.080 2 29220747 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1800875
rs1800875
12 0.742 0.360 14 24510132 upstream gene variant C/T snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs74315409
rs74315409
13 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs1057519861
rs1057519861
15 0.776 0.080 7 55181398 missense variant T/A snv 0.010 1.000 1 2017 2017
dbSNP: rs80265967
rs80265967
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 2005 2005